Desmosterolosis: A new inborn error of cholesterol biosynthesis [5]

Lancet

Volumn 348, Issue 9024, 1996, Pages 404-

  Clayton, P ^a   Mills, K ^a   Keeling, J ^a   Fitzpatrick, D ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; DESMOSTEROL; FORMALDEHYDE; LANOSTEROL; STEROL;

CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CHROMOSOME 20; CHROMOSOME ANALYSIS; CRANIOFACIAL MALFORMATION; DESMOSTEROLOSIS; DISORDERS OF CHOLESTEROL METABOLISM; ENZYME DEFICIENCY; FEMALE; GAS CHROMATOGRAPHY; GENITAL MALFORMATION; HUMAN; LETTER; MASS SPECTROMETRY; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

EID: 0029744511     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(05)65020-9     Document Type: Letter

References (5)

1. M Irons ER Elias G Salen GS Tint AK Batta Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome Lancet 3 1993 1414
2. GS Tint M Irons ER Elias Defective cholesterol synthesis associated with the Smith-Lemli-Opitz syndrome N Engl J Med 330 1994 107 113
3. JM McGaughran PT Clayton KA Mills S Rimmer L Moore D Donnai Prenatal diagnosis of Smith-Lemli-Opitz syndrome Am J Med Genet 56 1995 269 271
4. K Mills H Mandel R Montemagno P Soothill R Gershoni-Baruch PT Clayton First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency) Pediatr Res 39 1996 816 819
5. C Roux Action teratogene du triparanol chez l'animal Arch Fr Pediatr 21 1964 451 464